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Cellosaurus TTDH5PV (CVCL_RU87)

[Text version]
Cell line name TTDH5PV
Synonyms TrichoThioDystrophy Heterozygote 5 PaVia
Accession CVCL_RU87
Resource Identification Initiative To cite this cell line use: TTDH5PV (RRID:CVCL_RU87)
Comments From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=9758621).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=9758621).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 33Y
Category Finite cell line
Publications

PubMed=9758621; DOI=10.1086/302063; PMCID=PMC1377495
Botta E., Nardo T., Broughton B.C., Marinoni S., Lehmann A.R., Stefanini M.
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Am. J. Hum. Genet. 63:1036-1048(1998)

Cross-references
Cell line databases/resources CLO; CLO_0009440
CLDB; cl4567
Encyclopedic resources Wikidata; Q54973282
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number8